NLM Logo

Mandibulofacial Dysostosis MeSH Descriptor Data 2022


MeSH Heading
Mandibulofacial Dysostosis
Tree Number(s)
C05.116.099.370.231.576
C05.660.207.231.576
C11.270.147.750
C16.131.621.207.231.576
Unique ID
D008342
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D008342
Scope Note
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
Entry Term(s)
Franceschetti-Zwahlen-Klein Syndrome
Mandibulofacial Dysostosis (MFD1)
Treacher Collins Syndrome
Treacher Collins-Franceschetti Syndrome
NLM Classification #
WE 705
Date Established
1966/01/01
Date of Entry
1999/01/01
Revision Date
2018/06/30
Mandibulofacial Dysostosis Preferred
page delivered in 0.149s